RECRUITING

Gene Discovery Core, The Manton Center

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions. The primary goal of the research is to better understand the genes and proteins (gene products) involved in rare diseases. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with rare disease in the future. Individuals with any rare/undiagnosed condition are eligible to enroll. Enrollment includes: * Providing DNA and tissue samples (when available) * Access to participants' medical records * Access to genomic data (when available) Samples are used for genetic analysis (primarily exome and genome sequencing or reanalysis) to identify the genetic cause for the individual's illness. Individual research results are returned to families through their health care provider after confirmation in a clinical lab. If a cause is identified, that can be reported back to the family through their health care provider and the study's genetic counselor. When possible, the investigators also collect samples from parents and full-siblings as well as any other affected family members.

Quick Facts

Study Start:2010-02
Study Completion:2030-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02743845

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Having a known or uncertain rare diagnosis which may have a poorly understood genetic component and/or be a relative to a person with such a diagnosis
  1. * Not having such a diagnosis and/or not being related to such an individual

Contacts and Locations

Study Contact

Jill Madden, PhD,MS, CGC
CONTACT
617-919-4287
gdc@childrens.harvard.edu

Study Locations (Sites)

Boston Children's Hospital
Boston, Massachusetts, 02115
United States

Collaborators and Investigators

Sponsor: Boston Children's Hospital

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2010-02
Study Completion Date2030-12

Study Record Updates

Study Start Date2010-02
Study Completion Date2030-12

Terms related to this study

Keywords Provided by Researchers

  • Rare
  • Undiagnosed
  • Orphan Disease
  • Genomic Sequencing

Additional Relevant MeSH Terms

  • Undiagnosed Conditions
  • Rare Disorders
  • Orphan Diseases